SUN-001 Primary Amenorrhea In An Adult : A Case Of Septo-optic Dysplasia.

Abstract Disclosure: S. Waheed: None. Primary AmenorrheainanAdult :ACase of Septo-OpticDysplasia Background: Wepresent acaseof ayoung femalewith primary amenorrhea, absenceof secondary sexualcharacteristics, right-sidedvisionloss, andhypopituitarism. Clinical Case: A 32-year-oldfemalewith ahistory of generalizedseizures presentedfor evaluationof primaryamenorrhea. Shehadcongenital right visionloss. Shehadnever experiencedpuberty ordevelopedsecondary sexual characteristics. Shewas treatedwith Humanchorionicgonadotrophins (HCG), somatotropinandoral contraceptivepills (OCP)for short staturewhenshewas 15-years oldfor less thantwoyears. Shehadnever undergoneapelvic ultrasound.Shedeniedanosmiaor headaches. Shewas diagnosedwith hypothyroidism inchildhoodandhas beenonastabledoseof levothyroxine. Laboratory findings revealedFSH 1.6mIU/mL(normal: 2.5-9.1mIU/mL), LH 0.3mIU/mL (normal: 1.9-16.9mIU/mL), TSH 0.07mIU/mL(normal: 0.40-4.50mIU/mL), T42.2ng/dL (normal: 0.8-1.8ng/dL). Repeat labs showedTSH0.02mIU/mL, thyroidperoxidaseantibody >900IU/mL (normal: <9IU/mL), ACTH 14pg/mL(normal: 6-50pg/mL), IGF-1<10ng/mL (normal: 53-331ng/mL), DHEA-S 5mcg/dL (normal:19-237mcg/dL), prolactin4ng/mL (normal: 3-20ng/mL), cortisol 2.2mcg/dL (normal: 4-22mcg/dL), estradiol <2pg/mL (normal: 39-440pg/mL). AnMRI revealedanabnormal corpuscallosum with hypoplasia/dysplasiaof its anterior half, abnormal genu andasymmetric changesintheright cingulategyrus. A pelvic ultrasoundshowedahypoplastic uterus, andtheovariescouldnot beidentified.Twoor morefeatures of thetriadof optic nervehypoplasia,pituitaryhormonedeficiency andmidlinebraindefects (absenceof septum pellucidum and/or corpuscallosum)arerequiredfor thediagnosis of Septo-optic dysplasia(SOD)alsoknownas deMorsier syndrome. Our patient hadall thethreecomponents. Patient was startedonhydrocortisoneandlow doseestrogen/progesterone. Discussion: SOD is arareconditionwith prevalenceof 1in10,000livebirths. Most individuals with SODarediagnosedearlier inlife, oftenduring infancy or childhood. Interestingly, this patient wentundiagnosedintothe3rddecade. Severeadrenal insufficiency typically results inlife-threatening adrenal crises, yet thepatient has managedtoavoidtheseacutecomplications. Presentation: Sunday, July 13, 2025